Research ExplorerPublicationsTHOC5

THOC5

Standard

THOC5 : a novel gene involved in HDL-cholesterol metabolism. / Keller, Maria; Schleinitz, Dorit; Förster, Julia; Tönjes, Anke; Böttcher, Yvonne; Fischer-Rosinsky, Antje; Breitfeld, Jana; Weidle, Kerstin; Rayner, Nigel W; Burkhardt, Ralph; Enigk, Beate; Müller, Ines; Halbritter, Jan; Koriath, Moritz; Pfeiffer, Andreas; Krohn, Knut; Groop, Leif; Spranger, Joachim; Stumvoll, Michael; Kovacs, Peter.

In: J LIPID RES, Vol. 54, No. 11, 11.2013, p. 3170-3176.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Keller, M, Schleinitz, D, Förster, J, Tönjes, A, Böttcher, Y, Fischer-Rosinsky, A, Breitfeld, J, Weidle, K, Rayner, NW, Burkhardt, R, Enigk, B, Müller, I, Halbritter, J, Koriath, M, Pfeiffer, A, Krohn, K, Groop, L, Spranger, J, Stumvoll, M & Kovacs, P 2013, 'THOC5: a novel gene involved in HDL-cholesterol metabolism', J LIPID RES, vol. 54, no. 11, pp. 3170-3176. https://doi.org/10.1194/jlr.M039420

APA

Keller, M., Schleinitz, D., Förster, J., Tönjes, A., Böttcher, Y., Fischer-Rosinsky, A., Breitfeld, J., Weidle, K., Rayner, N. W., Burkhardt, R., Enigk, B., Müller, I., Halbritter, J., Koriath, M., Pfeiffer, A., Krohn, K., Groop, L., Spranger, J., Stumvoll, M., & Kovacs, P. (2013). THOC5: a novel gene involved in HDL-cholesterol metabolism. J LIPID RES, 54(11), 3170-3176. https://doi.org/10.1194/jlr.M039420

Vancouver

Keller M, Schleinitz D, Förster J, Tönjes A, Böttcher Y, Fischer-Rosinsky A et al. THOC5: a novel gene involved in HDL-cholesterol metabolism. J LIPID RES. 2013 Nov;54(11):3170-3176. https://doi.org/10.1194/jlr.M039420

Bibtex

@article{46e585583c224a44a087968ffee5e60f,
title = "THOC5: a novel gene involved in HDL-cholesterol metabolism",
abstract = "Although numerous genes are known to regulate serum lipid traits, identified variants explain only a small proportion of the expected heritability. We intended to identify further genetic variants associated with lipid phenotypes in a self-contained population of Sorbs in Germany. We performed a genome-wide association study (GWAS) on LDL-cholesterol, HDL-cholesterol (HDL-C), and triglyceride (TG) levels in 839 Sorbs. All single-nucleotide polymorphisms with a P value <0.01 were subjected to a meta-analysis, including an independent Swedish cohort (Diabetes Genetics Initiative; n = ∼3,100). Novel association signals with the strongest effects were subjected to replication studies in an additional German cohort (Berlin, n = 2,031). In the initial GWAS in the Sorbs, we identified 14 loci associated with lipid phenotypes reaching P values <10⁻⁵ and confirmed significant effects for 18 previously reported loci. The combined meta-analysis of the three study cohorts (n(HDL) = 6041; n(LDL) = 5,995; n(TG) = 6,087) revealed a novel association for a variant in THOC5 (rs8135828) with serum HDL-C levels (P = 1.78 × 10⁻⁷; Z-score = -5.221). Consistently, the variant was also associated with circulating APOA1 levels in Sorbs. The small interfering RNA-mediated mRNA silencing of THOC5 in HepG2 cells resulted in lower mRNA levels of APOA1, SCARB1, and ABCG8 (all P < 0.05). We propose THOC5 to be a novel gene involved in the regulation of serum HDL-C levels.",
keywords = "Adolescent, Adult, Aged, Aged, 80 and over, Cholesterol, HDL/metabolism, Cohort Studies, Female, Genome-Wide Association Study, Germany/ethnology, Hep G2 Cells, Humans, Male, Meta-Analysis as Topic, Middle Aged, Nuclear Proteins/genetics, Polymorphism, Single Nucleotide, RNA, Messenger/genetics, Young Adult",
author = "Maria Keller and Dorit Schleinitz and Julia F{\"o}rster and Anke T{\"o}njes and Yvonne B{\"o}ttcher and Antje Fischer-Rosinsky and Jana Breitfeld and Kerstin Weidle and Rayner, {Nigel W} and Ralph Burkhardt and Beate Enigk and Ines M{\"u}ller and Jan Halbritter and Moritz Koriath and Andreas Pfeiffer and Knut Krohn and Leif Groop and Joachim Spranger and Michael Stumvoll and Peter Kovacs",
year = "2013",
month = nov,
doi = "10.1194/jlr.M039420",
language = "English",
volume = "54",
pages = "3170--3176",
journal = "J LIPID RES",
issn = "0022-2275",
publisher = "American Society for Biochemistry and Molecular Biology Inc.",
number = "11",

}

RIS

TY - JOUR

T1 - THOC5

T2 - a novel gene involved in HDL-cholesterol metabolism

AU - Keller, Maria

AU - Schleinitz, Dorit

AU - Förster, Julia

AU - Tönjes, Anke

AU - Böttcher, Yvonne

AU - Fischer-Rosinsky, Antje

AU - Breitfeld, Jana

AU - Weidle, Kerstin

AU - Rayner, Nigel W

AU - Burkhardt, Ralph

AU - Enigk, Beate

AU - Müller, Ines

AU - Halbritter, Jan

AU - Koriath, Moritz

AU - Pfeiffer, Andreas

AU - Krohn, Knut

AU - Groop, Leif

AU - Spranger, Joachim

AU - Stumvoll, Michael

AU - Kovacs, Peter

PY - 2013/11

Y1 - 2013/11

N2 - Although numerous genes are known to regulate serum lipid traits, identified variants explain only a small proportion of the expected heritability. We intended to identify further genetic variants associated with lipid phenotypes in a self-contained population of Sorbs in Germany. We performed a genome-wide association study (GWAS) on LDL-cholesterol, HDL-cholesterol (HDL-C), and triglyceride (TG) levels in 839 Sorbs. All single-nucleotide polymorphisms with a P value <0.01 were subjected to a meta-analysis, including an independent Swedish cohort (Diabetes Genetics Initiative; n = ∼3,100). Novel association signals with the strongest effects were subjected to replication studies in an additional German cohort (Berlin, n = 2,031). In the initial GWAS in the Sorbs, we identified 14 loci associated with lipid phenotypes reaching P values <10⁻⁵ and confirmed significant effects for 18 previously reported loci. The combined meta-analysis of the three study cohorts (n(HDL) = 6041; n(LDL) = 5,995; n(TG) = 6,087) revealed a novel association for a variant in THOC5 (rs8135828) with serum HDL-C levels (P = 1.78 × 10⁻⁷; Z-score = -5.221). Consistently, the variant was also associated with circulating APOA1 levels in Sorbs. The small interfering RNA-mediated mRNA silencing of THOC5 in HepG2 cells resulted in lower mRNA levels of APOA1, SCARB1, and ABCG8 (all P < 0.05). We propose THOC5 to be a novel gene involved in the regulation of serum HDL-C levels.

AB - Although numerous genes are known to regulate serum lipid traits, identified variants explain only a small proportion of the expected heritability. We intended to identify further genetic variants associated with lipid phenotypes in a self-contained population of Sorbs in Germany. We performed a genome-wide association study (GWAS) on LDL-cholesterol, HDL-cholesterol (HDL-C), and triglyceride (TG) levels in 839 Sorbs. All single-nucleotide polymorphisms with a P value <0.01 were subjected to a meta-analysis, including an independent Swedish cohort (Diabetes Genetics Initiative; n = ∼3,100). Novel association signals with the strongest effects were subjected to replication studies in an additional German cohort (Berlin, n = 2,031). In the initial GWAS in the Sorbs, we identified 14 loci associated with lipid phenotypes reaching P values <10⁻⁵ and confirmed significant effects for 18 previously reported loci. The combined meta-analysis of the three study cohorts (n(HDL) = 6041; n(LDL) = 5,995; n(TG) = 6,087) revealed a novel association for a variant in THOC5 (rs8135828) with serum HDL-C levels (P = 1.78 × 10⁻⁷; Z-score = -5.221). Consistently, the variant was also associated with circulating APOA1 levels in Sorbs. The small interfering RNA-mediated mRNA silencing of THOC5 in HepG2 cells resulted in lower mRNA levels of APOA1, SCARB1, and ABCG8 (all P < 0.05). We propose THOC5 to be a novel gene involved in the regulation of serum HDL-C levels.

KW - Adolescent

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Cholesterol, HDL/metabolism

KW - Cohort Studies

KW - Female

KW - Genome-Wide Association Study

KW - Germany/ethnology

KW - Hep G2 Cells

KW - Humans

KW - Male

KW - Meta-Analysis as Topic

KW - Middle Aged

KW - Nuclear Proteins/genetics

KW - Polymorphism, Single Nucleotide

KW - RNA, Messenger/genetics

KW - Young Adult

U2 - 10.1194/jlr.M039420

DO - 10.1194/jlr.M039420

M3 - SCORING: Journal article

C2 - 24023261

VL - 54

SP - 3170

EP - 3176

JO - J LIPID RES

JF - J LIPID RES

SN - 0022-2275

IS - 11

ER -